Variant report

Variant	rs17595807
Chromosome Location	chr2:33731974-33731975
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33729626..33732550-chr2:33733058..33735608,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12468183	1.00[AFR][1000 genomes]
rs12468338	1.00[AFR][1000 genomes]
rs17013153	1.00[AFR][1000 genomes]
rs17013160	1.00[AFR][1000 genomes]
rs62148983	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	esv1829750	chr2:33704194-33740571	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33710400-33775400	Weak transcription	Pancreas	Pancrea
2	chr2:33712200-33747600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:33727000-33737000	Weak transcription	Primary B cells from cord blood	blood
4	chr2:33727800-33733600	Enhancers	Brain Hippocampus Middle	brain
5	chr2:33728400-33732000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:33728400-33732600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:33728800-33734200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:33728800-33750800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:33729000-33737400	Enhancers	Brain Substantia Nigra	brain
10	chr2:33729200-33736200	Enhancers	Brain Cingulate Gyrus	brain
11	chr2:33729600-33732600	Enhancers	Brain Anterior Caudate	brain
12	chr2:33729800-33740200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:33730000-33735400	Weak transcription	Right Ventricle	heart
14	chr2:33730000-33751600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:33730200-33734000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr2:33730200-33735400	Weak transcription	Psoas Muscle	Psoas
17	chr2:33730800-33732000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:33731400-33740200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:33731600-33733200	Weak transcription	Fetal Heart	heart
20	chr2:33731800-33732600	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr2:33731800-33733000	Weak transcription	GM12878-XiMat	blood
22	chr2:33731800-33733800	Enhancers	Brain Angular Gyrus	brain

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